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Peds Cardiology > 3. Diagnosis of CHD > Flashcards

3. Diagnosis of CHD Flashcards

1
Q

Cardiac tumor which is typically single, firm, intramural and involves ventricular free wall or septum?

A

Fibroma

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2
Q

What is a common clinical manifestation of a fibroma?

A

Ventricular arrhythmias

Depend largely on location

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3
Q

Most important initial step in management for ToF + Absent Pulmonary Valve?

A

RESPIRATORY SUPPORT!

-Aneurysmal PA dilation can compress bronchi

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4
Q

What position should you place a baby with ToF + Absent Pulmonary valve in?

A

Prone - Helps PAs to fall forward and decompress bronchi

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5
Q

What increases intensity of murmur in HCM?

A

Anything that increases gradient across dynamic outflow tract obstruction:

  1. Exercise
  2. Standing from squatting
  3. Straining (Valsalva)
  4. Systemic vasodilation (nitroglycerin or isoproterenol)
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6
Q

What decreases intensity of murmur in HCM?

A

Anything that decreases gradient across dynamic outflow tract obstruction:
1. Systemic vasoconstriction (Phenylephrine)

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7
Q

What defect do you expect to see in a baby delivered to Mom with PKU and elevated phenylalanine levels during pregnancy?

A

Left sided heart defects (HLHS, coarctation, ect)

-Also can see ToF, septal defects

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8
Q

True or False: Degree of elevation of maternal serum phenylalanine level is predictive of CHD in fetus?

A

True

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9
Q

FTT, supravalvar PS, supravalvar AS, elfin face, flared eyebrows, bright stellate irides, wide mouth… what syndrome?

A

Williams

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10
Q

7q11 deletion

A

Williams syndrome

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11
Q

11q23 deletion?

A

Jacobsen syndrome

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12
Q

22q11.2 deletion?

A

DiGeorge/ Velocardiofacial syndrome

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13
Q

1p36 and 8p23.1

A

No specific syndromes, but associated with CHD

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14
Q

ASD + Missing thumb?

A

Holt-Oram

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15
Q

Mutation in TBX5 gene?

A

Holt-Oram

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16
Q

Inheritance pattern for Holt-Oram?

A

AD

-Caused by mutations of TBX5 gene

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17
Q

Most common viral causes of myocarditis?

A
  1. Adenovirus

2. Enteroviruses (most commonly coxsackie)

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18
Q

Most likely genetic syndrome in neonate with truncus?

A

DiGeorge

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19
Q

DiGeorge syndrome has increased risk of what CHD?

A

Conotruncal

-IAA and Truncus

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20
Q

Most common type of interrupted aortic arch in DiGeorge?

A

B

-Between second carotid and ipsilateral subclavian

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21
Q

High frequency click immediately after S1 and heard best at apex?

A

Bicuspid AV

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22
Q

Click + Suprasternal notch thrill in bicuspid aortic valve… where is stenosis likely located?

A

Valvular

Versus subvalvar or supravalvular

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23
Q

Describe a PV ejection click

A

After S1, but with respiratory variation (louder with expiration)

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24
Q

Describe MVP click

A
  • Early systole with patient standing

- Later in systole with squatting or supine

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25
Q

Dark brown freckle like spots on body (increasing with age), sensorineural deafness, short stature, murmur, ECG with 1st degree AV block… what will you find on echo?

A

PS and LVH

LEOPARD syndrome

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26
Q

What does LEOPARD syndrome stand for?

A 
Letigines
ECG conduction defects
Ocular hypertelorism
PS
Abnormal genitals
Retarded growth (subsequent short stature)
Deafness
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27
Q

How is LEOPARD syndrome inherited?

A

AD

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28
Q

What syndrome does LEOPARD share features with?

A

Noonan

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29
Q

PTPN11 and RAF1 mutations?

A

LEOPARD syndrome

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30
Q

What position do you expect a Still’s murmur to increase in intesnity?

A

Supine

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31
Q

Indications for pericardiocentesis?

A

Clinical Tamponade:

  1. Hypotension
  2. Low CO
  3. Pulsus paradoxus >10mmHg
  4. Bacterial pericarditis
  5. Immunocompromised hosts
  6. Unclear etiology
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32
Q

What is pulsus paradoxus?

A

> 10mmhg decrease in SBP during inspiration

(Normally SBP decreases by 4-6mmHg during inspiration due to decreased intrathoracic pressure and increased capacity of pulmonary venous bed)

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33
Q

Boy with recurrent sinusitis, dextrocardia, stomach bubble on right and bronchiectasis on CT?

A

Kartagener

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34
Q

How is Kartagener inheristed?

A

AR

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35
Q

Situs inversus, bronchiectasis, immotility of cilia in respiratory tract

A

Kartagener

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36
Q

Which syndrome has increased risk of infection secondary to T-cell dysfunction?

A

DiGeorge

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37
Q

Thrombocytopenia, eczema, immune deficiency?

A

Wiskott-Aldrich

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38
Q

How is Wiskott-Aldrich interited?

A

X-linked

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39
Q

How is Carney Complex inherited?

A

AD

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40
Q

Skin hyperpigmentation, endocrine overactivity, myxomas of skin and heart?

A

Carney Complex

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41
Q

What type of IAA is most common in AP septation defects?

A

A: Distal to L subclavian with severe coarctation

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42
Q

What type of IAA is seen in up to 1/3 of cases?

A

A

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43
Q

What type of IAA is seen most commonly in DiGeorge?

A

B: Between left carotid and left subclavian

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44
Q

How often is type C IAA seen?

A

<1%, very rare

C: Proximal to left carotid

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45
Q

True or False: Type D IAA is not compatible with life?

A

True

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46
Q

LAD on ECG in an infant?

A
  1. AVCD (complete or partial)
  2. Tricuspid atresia (+/- TGA)

*AVCD tend to have more superior axis (-60 to -100 degrees)

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47
Q

Differential for teen with persistent sinus tachycardia?

A
  1. Hyperthyroidism
  2. Substance abuse
  3. Pheochromocytoma
  4. Autonomic dysfunction
  5. Tachyarrhythmia
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48
Q

Eating disorder patients commonly have what on ECG?

A

Bradycardia

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49
Q

Heat intolerance, sweating, palpitations, weigh loss, insomnia, irritability?

A

Hyperthyroidism

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50
Q

Episodic symptoms of sweating, HTN, tachycardia?

A

Pheochromocytoma

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51
Q

What condition can produce an autonomic neuropathy involving inappropriate tachycardia?

A

Diabetes

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52
Q

Major criteria for rheumatic fever?

A
  1. Erythema marginatum: Erythematous, serpiginous, macular lesions with pale centers, not itchy
  2. Carditis
  3. Chorea
  4. Polyarthritis
  5. Subcutaneous nodules
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53
Q

Minor criteria for rheumatic fever?

A
  1. Fever
  2. Arthralgia
  3. Prolongation on PR on ECG
  4. Elevate acute phase reactants (CRP/ESR)
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54
Q

BP in legs lower than arms…

A

Coarctation

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55
Q

Low BP in RA and legs, but not LA…

A

Coarctation with aberrant right subclavian

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56
Q

Higher risk CHD for developing NEC?

A
  1. HLHS

2. Truncus

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57
Q

Findings consistent with cardiac tamponade?

A

Beck’s Triad:

  1. Hypotension
  2. Muffled/distant heart sounds
  3. JVD

*Can also see tachycardia and pulsus paradoxus

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58
Q

Secondary causes of pericardial effusion?

A
  • Rheumatic fever
  • Lupus
  • Renal failure
  • Secondary to a lupus like reaction to medication (isoniazid or hydralazine)
  • Hypothyroidism
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59
Q

ASD + Conduction abnormalities?

A

NKX2.5

-Chromosome 5q

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60
Q

Large ASD + Radial anomalies?

A

TBX5

Holt Oram

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61
Q

MLL2?

A

Kabuki

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62
Q

JAG1?

A

Alagille

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63
Q

PTNP11?

A

Noonan

64
Q

3/6 SEM at LUSB
Widely fixed split S2
Soft mid-diastolic rumble

A

ASD with large L-R shunt

65
Q

With a diastolic rumble, Qp:Qs is at least what?

A

1.5:1 or higher

66
Q

What ECG finding can be seen in a large ASD?

A

RAE (peaked P waves in II and V1)

67
Q

What should be done for critical AS in a neonate?

A

Aortic valvuloplasty

68
Q

What types of medication should not be given in critical AS?

A

Afterload reduction (milrinone, etc.)

69
Q

Most common type of cardiac tumor in children (especially infants)?

A

Rhabdomyoma

70
Q

Describe rhabdomyomas

A
  • Well circumscribed
  • Non-encapsulated
  • Intramural or intracavitary
  • Any location in heart, but most typically ventricles
  • Can be single, but often see several in same patient
  • Bright appearance on echo
71
Q

Describe S2 in various degrees of AS

A

Mild-mod AS: Normal physiological splitting
Severe AS: May be single (due to prolongation of LV ejection time)
Extremely severe cases: May be paradoxial splitting

72
Q

What type of cardiac tumor often presents with triad of cardiac obstruction (80%), embolism (70%) and systemic illness (60%)?

A

Myxoma

73
Q

What cardiac tumors are often pedunculated and friable?

A

Myxoma

74
Q

Where do myxomas typically occur?

A
  • Most common: LA
  • Attached to foramen ovale
  • Either ventricle
75
Q

Why should all patients with Marfan be referred to an opthalmologist?

A

To assess for ectopia lenti

76
Q

What 2 cardiac lesions are the most at risk for developing high-grade AV block?

A
  1. cc-TGA

2. Polysplenia (b/l L sidedness)

77
Q

What do patients with cc-TGA need regular monitoring for?

A

Block… regular ECG and Holter

78
Q

Why are patients with polysplenia at high risk for complete AV block?

A

Under-developed right sided structures including nodal/conduction tissue

79
Q

Most common genetic diagnosis with polyvalvular dysplasia?

A

Trisomy 18

80
Q
  • Valvular developmental disorder that results in thickened leaflets with significant regurgitation and prolapse.
  • Typically involves 2+ valves, but can involve all 4 valves of heart
A

Polyvalvular dysplasia

81
Q

What % of patients with trisomy 18 have some form of valvular dysplasia?

A

90

82
Q

Which genetic syndromes are associated with an increased incidence of partial anomalous pulmonary venous return?

A

Tuner
Noonan

*Visceral heterotaxy, polysplenia, asplenia and have high incidence of anomalous venous return

83
Q

What forms of CHD are most commonly associated with WPW?

A
  • HCM (Up to 10% may have pre-excitation)

- Ebstein (20-30% will have WPW with PAD and pre-excitation suggesting right sided pathway)

84
Q

3 signs there is worsening of PS

A
  • Systolic murmur peaks later in systole
  • Split of S2 sound widens (P2 sound delayed)
  • Murmur spills over into diastole and S2 sound may become inaudible
85
Q

What % of patients with Noonan have CHD?

A

Up to 85%

86
Q

Most common CHD in Noonan?

A
  • Pulmonary valvular stenosis
  • ASD
  • Partial AV canal
  • Coarctation
  • Hypertrophic cardiomyopathy
87
Q

RV lift and a short SEM in a patient with Noonan?

A

Mild PS (likely due to a thickened PV)

88
Q

Turner syndrome CHD?

A

Bicuspid AoV

CoA

89
Q

Williams syndrome CHD?

A

Supravalvar PS

Supravalvar AS

90
Q

Pulmonary branch stenosis?

A

Alagille

91
Q

What benign murmur is heard best over the upper chest, changes with head position or compression of the jugular vein, varies with respiration and is often heard loudest in standing position?

A

Venous hum

92
Q

Why does a murmur due to AS increase after a PVC?

A

Increased gradient across AoV due to enhanced diastolic filling during compensatory pause of PVC

93
Q

What % of patients with Turner syndrome have CHD?

A

30%

*Guidelines for management of patients with Tuner advocate for routine screening with echo (even in absence of prior CHD)

94
Q

What types of CHD are most common in Turner?

A

Left sided:

  1. Bicuspid aortic valve most common (15%)
  2. Coarctation (10%)
  3. Rare mitral valve anomalies
  4. HLHS (<5%)
95
Q

What are 2 issues for patients with Turner as they get older?

A

Aortic root and ascending aorta dilation (risk of aortic dissection and sudden death)

96
Q

CXR with bilateral rib notching and figure 3 sign upper chest?

A

CoA

97
Q

What should be considered for intermittent HTN, flushing, tachycardia, sweating?

A

Pheochromocytoma

-Order urine metanephrines

98
Q

Most common additional CHD in L-TGA?

A

VSD (80% of patients with L-TGA)

99
Q

What is the most common locations for a VSD in L-TGA?

A

Perimembranous

Subpulmonary

100
Q

Besides VSD, what are 2 other problems seen in L-TGA?

A
  1. LVOT obstruction (subpulmonary ventricular outflow tract) in 30-50% patients
  2. Morphologic tricuspid valve dysplasia
101
Q

Syncope while running, normal echo, uncle who died suddenly swimming with normal autopsy?

A

Long QT

102
Q

5 day old with cyanosis, SpO2 70%, CXR with mildly increased pulmonary vascular markings, loud S2, no murmur, echo with side by side great arteries… diagnosis?

A

DORV with subpulmonic VSD and no PS (Taussig-Bing- DORV side-by-side and subpulmonary VSD)

  • If VSD was subaortic, wouldn’t have cyanosis
  • If PS, normal to decreased pulmonary vascular markings
103
Q

How is Alagille interited?

A

AD

104
Q

Tirangular-shaped face, broad forehead, deep set eyes, butterfly vertebrae, paucity of bile ducts, may need liver transplant?

A

Alagille

105
Q

Most common cardiac manifestations in Alagille?

A

Peripheral PS

ToF

106
Q

What are things that increase LVOTO murmur in HCM?

A

Exercise
Standing
Valsalva
Amyl nitrate (potent vasodilator)

107
Q

What decreases intensity of a LVOTO murmur in HCM?

A

Handgrip

Phenylephrine

108
Q

What are findings that favor HCM over athletes heart?

A
  1. Irregular hypertrophy (as opposed to pure concentric hypertrophy)
  2. Normal sized LV diastolic dimensions
  3. LA enlargement
  4. Abnormal ECG
  5. Abnormal LV diastolic function
  6. FHx HCM
  7. Female
109
Q

What can be done to distinguish athletes heart from HCM?

A

Deconditioning test

-LV thickness will resolve in someone with athletes heart

110
Q

What should be considered with dilated cardiomyopathy in a child from South America?

A

Chagas

111
Q

What is a cardiac complication of Chagas (Trypanosoma Cruzi)?

A

Severe form of myocarditis

112
Q

Where is Chagas disease endemic?

A

Latin and South America

*Rarely seen in US except for recent immigrants

113
Q

How to differentiate between restrictive cardiomyopathy and constrictive pericarditis?

A
  • Restrictive cardiomyopathy: Atria are markedly enlarged, RVSP >50mmHg, rarely show changes in Doppler flow velocities with inspiration and expiration
  • Constrictive pericarditis: Septal bounce, equal RVEDP and LVEDP and normal PVRi
114
Q

Describe the MR murmur associated with rheumatic heart disease

A
  • High pitched
  • Holosystolic
  • Heard best at apex radiating to left axilla
  • Heard best at end of expiration with patient lying in left lateral decubitus position
115
Q

Infant with low birth weight, hypotonia, microcephaly, hypertelorism, epicanthal folds with down-slanting palpebral fissures, flat nasal bridge, micrognathia, single palmar creases and a high pitched cry?

A

Cri-du-chat (Lejeune)

116
Q

What causes Cri-du-chat?

A

Deletion of the short arm of chromosome 5 (5p-)

117
Q

What is the most common cardiac manifestations of Cri-du-chat?

A

VSD
ASD
PDA
ToF

118
Q

Major criteria for rheumatic fever?

A
  1. Erythema marginatum
  2. Carditis
  3. Chorea
  4. Polyarthritis
  5. Subcutaneous nodules
119
Q

Minor criteria for rheumatic fever?

A
  1. Fever
  2. Arthralgias
  3. Prolongation of PR interval on ECG
  4. Elevated acute phase reactants (CRP and ESR)
120
Q

What are the 3 most common manifestations of rheumatic fever?

A
  1. Migratory polyarthritis (40-70%)
  2. Carditis (30-60%)
  3. Chorea (10-30%)

*Derm findings occur in <10% of patients each

121
Q

What population is Ellis-van Creveld syndrome most commonly seen in?

A

Pennsylvania Amish

122
Q

Skeletal and ectodermal dysplasias, short stature, short limbs, hypoplastic or dysplastic fingernails, postaxial polydactyly and neonatal or small teeth?

A

Ellis-van Creveld

123
Q

What causes Ellis-van Creveld?

A

Mutations in the EVC and EVC2 genes on chromosome 4

124
Q

What is the most common CHD in Ellis-van Creveld?

A

Large ASD or common atrium

*Over half have CHD

125
Q

What are common training-related ECG findings?

A
  1. Sinus bradycardia
  2. 1st degree AV block
  3. Incomplete RBBB
  4. Early repolarization
  5. Isolated QRS voltage criteria for LVH (10-40% of high school/college athletes can meet voltage criteria for LVH with normal echo)
126
Q

Characteristic cardiac tumor in tuberous sclerosis?

A

Rhabdomyoma

127
Q

Natural course for rhabdomyomas associated with tuberous sclerosis?

A
  • Usually resolve without intervention
  • Most patients asymptomatic, but can have obstruction if tumor is large
  • Can surgically excise if hemodynamic compromise or arrhythmia due to rhabdomyomas
128
Q

What is most commonly identified genetic cause of ToF?

A

22q11. 2 (20%)

* Most cases of ToF don’t have an identifiable cause

129
Q

If ToF is due to 22q11.2, what is inheritance pattern?

A

AD
*Up to 10% familial with variable expressivity and incomplete penetrance

*Most mutations are de novo

130
Q

Most common vascular ring to cause symptoms in first few months of life?

A

Double aortic arch

*Earlier if both arches are widely patent and later if one of the arches is hypoplastic

131
Q

True or False: Patients with retroesophageal left subclavian artery with right aortic arch don’t have a technical vascular ring and rarely require treatment

A

True

132
Q

What is the most common arch anomaly?

A

Retroesophageal right subclavian artery with left aortic arch (0.5% of population)

*Doesn’t commonly cause symptoms in infancy

133
Q

What results in an anterior indentation of the esophagus on barium swallow?

A

LPA sling

134
Q

How does an LPA sling present?

A

Respiratory distress and stridor in first few years of life

135
Q

What arch anomaly is extremely rare and may present incidentally on an imaging study, incidentally in conjunction with other CHD, or a pattern similar to coarctation?

A

Persistent 5th aortic arch

136
Q

When is a typical friction rub the loudest?

A

When heart is closest to the chest wall (patient leaning forward, kneeling, inspiring)

137
Q

True or False: Absence of a friction rub doesn’t exclude pericarditis?

A

True

*Especially with large effusion

138
Q

Developmental delay, wide-spaced eyes, ptosis, small ears, short stature, thrombocytopenia (tendency for life-threatening hemorrhages)?

A

Jacobsen syndrome

139
Q

Deletion in Jacobsen syndrome?

A

11q23

140
Q

What types of CHD are seen in Jacobsen syndrome?

A

VSD
Left sided lesions (mitral valve and aortic valve
Other forms

141
Q

Most common cardiac defects in patients with congenital rubella?

A

PS
PDA

*May also present with VSD or ToF

142
Q

Describe the click associated with MVP

A
  • Murmur (late systolic at apex) typically preceded by click
  • Click heard in early to midsystole with patient standing
  • Click heard later in systole with squatting or supine position
143
Q

Describe the click associated with bicuspid aortic valve

A

Aortic ejection clock most often early in systole after S1

144
Q

Describe a pulmonary valve ejection click

A
  • Happens with respiratory variation

- Louder with expiration

145
Q

What phase of the cardiac cycle is a rub heard in?

A

Systole and diastole

146
Q

What chromosomal abnormality has the highest incidence of CHD?

A

Trisomy 18

*Up to 95% have some form CHD (polyvalvular dysplasia, VSD, ToF/DORV, AVSD)

147
Q

Patients with Down Syndrome have what % chance of CHD?

A

40%

148
Q

Patients with Turner syndrome have what % chance of CHD?

A

25%

149
Q

Patients with 22q11 have what % chance of CHD?

A

80%

150
Q

Patients with 5p- (Cri-du-chat) have what % chance of CHD?

A

20%

151
Q

What % of patients with IAA-B have a 22q11.2 delection?

A

At least 50

152
Q

Patients with truncus, isolated arch anomalies, ToF and perimembranous VSD have what % chances of having 22q11, respectivey?

A
  • 35% of truncus
  • 24% isolated arch anomalies
  • 15% ToF
  • 10% perimembranous VSD
153
Q

Most common causes of SCD in athletes in the US?

A
  • HCM: 44%
  • Coronary artery anomalies: 17%
  • Myocarditis: 6%
  • Ion channelopathies: 3%
154
Q

4-extremity BPs: RL: 40/25, LL: 42/22, RA: 48/27, LA: 72/35

Infant is ill with ventricular hypertrophy and abnormal arch, what is most likely diagnosis?

A

CoA with aberrant R subclavian

  • CoA: Leg BP lower than arm BP
  • Low BP in RA but not LA suggests that right subclavian artery originates distal to coarctation
155
Q

Retinoic acid use early in pregnancy is associated with that category of CHD?

A

Conotruncal defects

*Extracardiac defects also common

156
Q

Causes of significant flow reversal in the descending aorta?

A
  • Large PDA
  • Severe AI
  • Intracranial AVM (vein of Galen malformation)
  • Large LV-Ao tunnel (arises above right sinus of valsalva)

Peds Cardiology (20 decks)

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